A39V (p.Ala39Val) variant of ANK2 (Ankyrin-2)
A39V (p.Ala39Val) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- gnomAD 4-113151111-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.15
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.0763
- Literature evidence available